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[r14 syndrome without major dysmorphism]
M C de Blois1, B Caille, M O Rethoré
1Centre de Recherches en Génétique Humaine, Institut de Progénèse, Paris, France.
Annales De Genetique
|January 1, 1990
Abstract:
An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism.